Varaico: Literature-Extracted Genetic Variants

SETDB2

42 papers

RefSeq Summary

This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochroma...

Pfam Domains

MBDaa 159–232UCSCMethyl-CpG binding domain

Pre-SETaa 247–359UCSCPre-SET motif

SETaa 378–519UCSCSET domain

SETaa 540–694UCSCSET domain

Gene Aliases

HGNC Name

SET domain bifurcated histone lysine methyltransferase 2

HGNC Alias Symbols

CLLD8; CLLL8; KMT1F

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001160308.3

p.G404R

c.1210G>C

Surrounding Variants

1 paper

NM_001160308.3

p.G404R

c.1210G>A

2 papers

NM_001160308.3

p.V461M

c.1381G>A

1 paper

NM_001160308.3

p.Q472H

c.1416A>C

1 paper

NM_001160308.3

p.Q472H

c.1416A>T

1 paper

NM_001160308.3

p.I486fs

c.1456_1457fs

1 paper

NM_001160308.3

p.I486insFs

c.1457_1458insT

1 paper

NM_001160308.3

p.G491W

c.1471G>T

1 paper

NM_001160308.3

p.M494insFs

c.1480dupA

1 paper

NM_001160308.3

p.E500E

c.1500G>A

1 paper

NM_001160308.3

p.T503_P504insFs

c.1509_1510insA

1 paper

NM_001160308.3

p.N531Y

c.1591A>T

1 paper

NM_001160308.3

p.I547T

c.1640T>C